Evaluate Clinical Characteristics and Disease Progression in MPS IIIB
Research type
Research Study
Full title
A Prospective Cross-Sectional and Longitudinal Study with Additional Retrospective Chart Review to Evaluate Clinical Characteristics and Disease Progression in Patients with Mucopolysaccharidosis Type IIIB
IRAS ID
133714
Contact name
Suresh Vijay
Contact email
Sponsor organisation
Synageva BioPharma Corp.
Research summary
The mucopolysaccharidoses (MPS) are a group of disorders caused by deficiency of enzymes.
In this study a particular enzyme deficiency called mucopolysaccharidosis Type IIIB (MPS IIIB), is being studied.
MPS IIIB is a very rare disease and prevents babies developing normally, they are unable to do the things normal babies can do.
Babies and young children with MPS IIIB will develop normally during the first 2 years of life, but then their development slows down. By 3 to 4 years they have stopped developing altogether and thereafter they start to go downhill.
Affected children usually become totally dependent on care early in their teenage years and only survive until their late twenties or early thirties.
There is currently no treatment for MPS IIIB. There are only medications to control some of the problems from which children and young people suffer such as seizures and behavioural problems, as well as sleeping aid medication.
The Sponsor of this study is trying to find a treatment for MPS IIIB. As is the case for most rare diseases, the disease is not fully understood and doctors would like to find out more information in order to develop an effective treatment.
There are two components to this study; Component 1 will involve looking at the medical records of children and young people who have MPS IIIB and a single visit to the research site for a series of assessments including tests to assess the child’s stage of development, blood tests, including DNA testing, and putting the child to sleep to do special scans and take a sample of the fluid in the spine (back-bone).
Component 2 will involve a smaller number of patients who will be asked to repeat some of the assessments at 6 monthly intervals over a two to five year period.REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
13/WM/0347
Date of REC Opinion
9 Oct 2013
REC opinion
Favourable Opinion